[go: up one dir, main page]
More Web Proxy on the site http://driver.im/

WO2019151751A1 - Panel de gènes pour médicament personnalisé, son procédé de formation et procédé de traitement personnalisé l'utilisant - Google Patents

Panel de gènes pour médicament personnalisé, son procédé de formation et procédé de traitement personnalisé l'utilisant Download PDF

Info

Publication number
WO2019151751A1
WO2019151751A1 PCT/KR2019/001247 KR2019001247W WO2019151751A1 WO 2019151751 A1 WO2019151751 A1 WO 2019151751A1 KR 2019001247 W KR2019001247 W KR 2019001247W WO 2019151751 A1 WO2019151751 A1 WO 2019151751A1
Authority
WO
WIPO (PCT)
Prior art keywords
cancer
nucleotide
seq
panel
gene
Prior art date
Application number
PCT/KR2019/001247
Other languages
English (en)
Korean (ko)
Inventor
김연정
박동현
박웅양
Original Assignee
사회복지법인 삼성생명공익재단
Priority date (The priority date is an assumption and is not a legal conclusion. Google has not performed a legal analysis and makes no representation as to the accuracy of the date listed.)
Filing date
Publication date
Application filed by 사회복지법인 삼성생명공익재단 filed Critical 사회복지법인 삼성생명공익재단
Priority to US16/966,567 priority Critical patent/US20210057040A1/en
Publication of WO2019151751A1 publication Critical patent/WO2019151751A1/fr

Links

Images

Classifications

    • G—PHYSICS
    • G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16B—BIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
    • G16B20/00—ICT specially adapted for functional genomics or proteomics, e.g. genotype-phenotype associations
    • G16B20/20—Allele or variant detection, e.g. single nucleotide polymorphism [SNP] detection
    • G—PHYSICS
    • G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16B—BIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
    • G16B25/00—ICT specially adapted for hybridisation; ICT specially adapted for gene or protein expression
    • G16B25/20—Polymerase chain reaction [PCR]; Primer or probe design; Probe optimisation
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q1/00—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
    • C12Q1/68—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
    • G—PHYSICS
    • G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16B—BIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
    • G16B20/00—ICT specially adapted for functional genomics or proteomics, e.g. genotype-phenotype associations
    • G—PHYSICS
    • G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16B—BIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
    • G16B25/00—ICT specially adapted for hybridisation; ICT specially adapted for gene or protein expression
    • G16B25/10—Gene or protein expression profiling; Expression-ratio estimation or normalisation
    • G—PHYSICS
    • G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16B—BIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
    • G16B50/00—ICT programming tools or database systems specially adapted for bioinformatics
    • G—PHYSICS
    • G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16H—HEALTHCARE INFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR THE HANDLING OR PROCESSING OF MEDICAL OR HEALTHCARE DATA
    • G16H10/00—ICT specially adapted for the handling or processing of patient-related medical or healthcare data
    • G16H10/60—ICT specially adapted for the handling or processing of patient-related medical or healthcare data for patient-specific data, e.g. for electronic patient records
    • G—PHYSICS
    • G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16H—HEALTHCARE INFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR THE HANDLING OR PROCESSING OF MEDICAL OR HEALTHCARE DATA
    • G16H20/00—ICT specially adapted for therapies or health-improving plans, e.g. for handling prescriptions, for steering therapy or for monitoring patient compliance
    • G—PHYSICS
    • G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16H—HEALTHCARE INFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR THE HANDLING OR PROCESSING OF MEDICAL OR HEALTHCARE DATA
    • G16H50/00—ICT specially adapted for medical diagnosis, medical simulation or medical data mining; ICT specially adapted for detecting, monitoring or modelling epidemics or pandemics
    • G16H50/20—ICT specially adapted for medical diagnosis, medical simulation or medical data mining; ICT specially adapted for detecting, monitoring or modelling epidemics or pandemics for computer-aided diagnosis, e.g. based on medical expert systems
    • G—PHYSICS
    • G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16H—HEALTHCARE INFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR THE HANDLING OR PROCESSING OF MEDICAL OR HEALTHCARE DATA
    • G16H50/00—ICT specially adapted for medical diagnosis, medical simulation or medical data mining; ICT specially adapted for detecting, monitoring or modelling epidemics or pandemics
    • G16H50/30—ICT specially adapted for medical diagnosis, medical simulation or medical data mining; ICT specially adapted for detecting, monitoring or modelling epidemics or pandemics for calculating health indices; for individual health risk assessment

Definitions

  • Targeted therapies have enabled tailored treatment of protein and gene abnormalities in individual patients, but there are limitations, since limited target protein mutations and consequent drugs must be combined. Therefore, there is a need for an individual dance therapy that targets genetic variation of individual patients.
  • One aspect is to provide a panel of genes for personalized medicine comprising at least 10 contiguous polynucleotides, comprising mutations of each polynucleotide or complementary polynucleotide of each of the genes listed in Table 3 below:
  • Another aspect includes detecting mutations in a panel of genes as defined above in a biological sample isolated from an individual; And in the detection result, setting a gene having a mutation as a therapeutic target of the individual, to provide information for personalized treatment.
  • One aspect provides a panel of genes for personalized medicine, comprising at least 10 contiguous polynucleotides, comprising a mutation of a polynucleotide or complementary polynucleotide of each of the genes listed in Table 3 below:
  • a "polynucleotide” can be DNA or RNA.
  • the polynucleotide may also be in single- or double-stranded form.
  • the polynucleotide is also composed of natural nucleotides, as well as modifications of natural nucleotides, analogues of natural nucleotides, sugars, bases or phosphoric acid sites of natural nucleotides, as long as they have the property of hybridizing to complementary nucleotides by hydrogen bonding.
  • Nucleotides selected from the group consisting of nucleotides and combinations thereof Schoteau and Peyman, Chemical Reviews, 90: 543-584 (1990)).
  • the polynucleotide represents a single nucleotide polymorphism at the mutation site. Therefore, when one single-stranded polynucleotide is associated with the risk of developing intractable disease including cancer, it is determined that the polynucleotide complementary to the single-stranded polynucleotide is also associated with the risk of developing intractable disease including cancer. Can be.
  • the polynucleotide of SEQ ID NO: 1 is hg19.
  • the nucleotide at position 54656673 is "C or T". In this case, the gene panel was hg19.
  • At least 10 contiguous nucleotides comprising the “C or T” nucleotide at position 54656673 and selected from the polynucleotides of SEQ ID NO: 1, as well as hg19.
  • the polynucleotide can be a primer, probe, or antisense nucleic acid.
  • “Primer” refers to a single-stranded polynucleotide that can act as a starting point in the polymerization of nucleotides by polymerases.
  • the primer may be a single strand that can serve as a starting point for template-directed DNA synthesis under suitable conditions and in suitable buffers (ie, the presence of four different nucleoside triphosphates and polymerases). It may be a polynucleotide of. Suitable length of the primer can vary depending on various factors, such as temperature and the use of the primer. The primer may be 15 to 30nt in length. Short primer molecules generally require lower temperatures to form a hybrid complex that is sufficiently stable with the template.
  • the design of the primer can be readily carried out by one of ordinary skill in the art with reference to the given sequence of the target nucleic acid to be amplified. For example, it can be designed using a commercially available primer design program. Examples of such commercially available primer design programs include the PRIMER 3 program.
  • the polynucleotide when used as a PCR primer, in addition to the polynucleotide, it may include a primer that specifically binds to its complementary strand.
  • the probe may be 5 to 100nt, 10 to 90nt, 15 to 80nt, 20 to 70nt, or 30 to 50nt in length.
  • the polynucleotide includes PNA.
  • the polynucleotide may be attached to a detectable label (e.g., a Cy3, Cy5 fluorescent substance), e.g., 3 ', for example, for ease of detection of the polynucleotide or a complex to which it is bound in an assay. It may be attached to the terminal or 5 'end.
  • the probe may be a nucleotide sequence that is completely complementary to a target sequence that includes a mutation position.
  • the probe may be one having a substantially complementary nucleotide sequence within a range that does not prevent specific hybridization to a target sequence including a mutation position.
  • the probe may be one having a modified nucleotide within a range that does not impair specific hybridization to the target sequence including the mutation position. Examples of such probes include a perfect match probe consisting of sequences that are completely complementary to a polynucleotide comprising a mutation site and a complete complement probe to all sequences except for the mutation site, for a polynucleotide comprising the mutation site. It may be selected from the group consisting of a probe having a sequence.
  • Antisense nucleic acid refers to a nucleic acid based molecule having a nucleotide sequence complementary to a target sequence and capable of forming a dimer with it.
  • the antisense nucleic acid may be complementary to the polynucleotide or fragment thereof, or these.
  • the antisense nucleic acid may have a length of 10 nt or more, more specifically 10 to 200 nt, 10 to 150 nt, or 10 to 100 nt, but an appropriate length may be selected to increase detection specificity.
  • the primers, probes or antisense nucleic acids can be used to amplify or confirm the presence of a nucleotide sequence having an allele specific for a mutation site.
  • the mutation may be a silent mutation.
  • amino acid substitution means that the amino acid sequence is changed by a change of one or more nucleotides
  • the silent mutation means a mutation in which the encoded amino acid is the same, although the nucleotide is changed.
  • the mutation of the polynucleotide is hg19. Nucleotide at position 54656673 is T, SEQ ID NO: 2 hg19. Nucleotide at position 54649456 is A, SEQ ID NO: hg19. Nucleotide at position 134109517 is G, SEQ ID NO: hg19. The nucleotide at position 19030598 is G, SEQ ID NO: hg19.
  • the genetic panel is based on the individual patient's tumor gene, it is possible to enhance the therapeutic effect of the tumor through customized gene therapy.
  • the gene panel is a target of not only a missense mutation but also a silent mutation in which a protein mutation does not occur. Therefore, the gene panel effectively targets various diseases caused by the genetic mutation. can do.
  • the method may further include extracting a common mutation gene for the target gene set from a plurality of cell line publication databases and collecting sequencing information of the variant gene; Verifying each mutant gene from the nucleotide sequence information of the mutant gene; It may include.
  • a method of constructing a genetic panel for personalized medicine includes extracting a common mutation gene for the target gene set from a plurality of cell line published databases and collecting sequencing information of the variant gene.
  • the plurality of cell line publication databases may be Cancer Cell Line Encyclopedia (CCLE), National Cancer Institute (NCI), or Catalog of Somatic Mutations in Cancer (COSMIC) cancer database. Mutation gene extraction means identifying and / or discriminating information about substitution, addition, deletion, etc.
  • the method of constructing a genetic panel for personalized medical care in one embodiment includes the step of verifying each variant gene from the nucleotide sequence information of the variant gene. Specifically, the verification of the mutant gene can be performed by comparing the expression levels of the gene with which the mutation has occurred and the normal gene.
  • Another aspect includes detecting mutations in a panel of genes as defined above in a biological sample isolated from an individual; And in the detection result, setting a gene having a mutation as a therapeutic target of the individual; It provides a method for providing information for a personalized treatment comprising a.
  • Mutation detection of the panel of genes as defined above may be performed by separating nucleic acids from the biological sample, and then determining the location of the mutation, and methods for isolating the nucleic acid and determining the location of the mutation are known in the art.
  • the nucleic acid can be separated by, for example, directly separating DNA from the biological sample or by amplifying a specific region by nucleic acid amplification methods such as PCR.
  • the isolated nucleic acid sample includes not only purely isolated nucleic acid but also cell lysates containing crude separated nucleic acid, for example, nucleic acid.
  • nucleic acid amplification methods include PCR, ligase chain reaction (LCR), transcription amplification, self-sustained sequence replication and nucleic acid based sequence amplification (NASBA).
  • the isolated nucleic acid may be DNA or RNA.
  • the DNA may be genomic DNA, cDNA or recombinant DNA.
  • the RNA may be mRNA.
  • the method of determining the mutation position can directly determine the nucleotide of the mutation position by, for example, a nucleotide sequencing method of known nucleic acids. Nucleotide sequencing methods may include Sanger (or dideoxy) sequencing methods or maksam-gilbert (chemical cleavage) methods.
  • the method of providing information of one embodiment comprises, in said detection result, setting a gene having a mutation as a therapeutic target of said individual.
  • the mutation of the gene panel in the case of SEQ ID NO: hg19.
  • Nucleotide at position 54656673 is T, SEQ ID NO: 2 hg19.
  • Nucleotide at position 54649456 is A, SEQ ID NO: hg19.
  • Nucleotide at position 134109517 is G, SEQ ID NO: hg19.
  • the nucleotide at position 19030598 is G, SEQ ID NO: hg19.
  • SEQ ID NO: hg19 For the nucleotide at position 86585178 A, SEQ ID NO: hg19.
  • Gene panel based on personal genomic sequence variation information of one aspect detects mutations in genes related to intractable diseases, including cancer, thereby tailoring individualized treatments and treatment models for cancer in consideration of the progression or change of cancer, etc. Can be built.
  • Gene panel based on personal genomic sequence variation information of one aspect detects mutations in genes related to intractable diseases, including cancer, thereby tailoring individualized treatments and treatment models for cancer in consideration of the progression or change of cancer, etc. Can be built.
  • by broadening the understanding of molecular mechanisms of tumor evolution and cancerization through the identification of individual genome mutations not only the efficient discovery of patient-specific drugs, but also the starting point for the development of patient-specific therapies.
  • FIG. 1 is a schematic diagram showing a customized therapeutic procedure using genes essential for cell survival.
  • FIG. 2 is a schematic diagram illustrating a process of deriving a constitutive gene from essential and housekeeping genes.
  • FIG. 3 is a table showing the results of cancer cell line WES / WGS public data analysis.
  • Figure 4 shows the results confirming the inhibition of protein expression of the mutated gene by the siRNA designed in Example 1-3.
  • Figure 5 shows the results of confirming the cytotoxicity to the cancer cells of the siRNA designed in Example 1-3.
  • the essential gene, the constituent gene; And gene sets are shown in Tables 1 to 3, respectively.
  • SiRNA was designed to inhibit the protein expression of the cancer cell line mutant gene selected in Example 1-2.
  • Real time RT-PCR primers and probes to confirm the expression inhibition efficiency of siRNA was also designed to specifically react with the mutant genes, and the results are shown in Table 4 below.
  • ZC3H13 gene expression inhibition effect by ZC3H13 siRNA was confirmed in the lung cancer cell line treated with ZC3H13siRNA.
  • EIF3D siRNA-treated ovarian cancer cell line was able to confirm the effect of inhibiting the SK-OV-3 gene expression by EIF3D siRNA.
  • RD cells were inoculated into 6 well plates at a density of 1 ⁇ 10 5 cells / ml, and Cont siRNA and CNOT siRNA were added at 25 nM, followed by incubation for 24 hours. Then, annexin V staining (annexin V staining) was confirmed using a FACScaliber instrument (Becton Dickinson, Inc.) to increase the cytotoxicity.
  • the panel of genes according to one embodiment may be usefully used for the target treatment of the individual.
  • Genomic DNA was isolated from various cancer patient-derived cancer tissue samples (Tissue, blood, FFPE, FNA, etc.) using the QiAmp DNA Mini kit (Qiagen, Valencia, CA, USA) for NGS experiments. Since then, Nanodrop 8000 UV-Vis spectrometer (Thermo Scientific Inc., DE, USA), Qubit 2.0 Fluorometer (Life technologies Inc., Grand Island, NY, USA) and 2200 TapeStation Instrument (Aglient Technologies, Santa Clara, CA, USA) The instrument was used to confirm the concentration, purity, and degradation of the isolated genomic DNA. Samples meeting the QC criteria were used for the next step of the experiment.
  • Genomic DNA obtained from each tissue was sheared using Covaris S220 (Covaris, MA, USA), followed by end-repair, A-tailing, paired-end adapter ligation and amplification.
  • the sequencing library was then fabricated.
  • the hybridization time of the library was reacted at 65 ° C. for 24 hours using a composition containing all of the polynucleotides prepared to capture 220 genomic regions selected in Example 1, and captured by hybridization. Genomic DNA library fragments were purified. Purification took advantage of the binding properties of streptavidin and biotin attached to the polynucleotide.
  • the combined library of streptavidin coated with magnetic beads and biotin attached to the captured library fragments were separated, and then the captured library fragments were separated from the mixture using magnetic force. Thereafter, the purified DNA DNA fragments were amplified by PCR equipment with an index barcode tag, and the conditions are shown in Table 5 below.
  • Example 2-1 The gene fragments captured in Example 2-1 were injected into an NGS sequencing machine (Miseq, illumina, USA) to obtain sequence information of each DNA fragment and aligned to obtain sequence information for each gene in a cancer sample. Sequencing reactions were performed using TruSeq Rapid PE Cluster kit and TruSeq Rapid SBS kit (Illumina, USA) and were performed under 100bp paired-end conditions.
  • Example 2-2 The sequencing reads data obtained in Example 2-2 were aligned to the UCSC hg19 reference genome (http://genome.ucsc.edu) using a Burrows-Wheeler Aligner (BWA) algorithm. PCR duplication was removed using Picard-tools-1.8 (http://picard.sourceforge.net/), and single nucleotide variations (SNV) were identified using the GATK-2.2.9 algorithm.
  • BWA Burrows-Wheeler Aligner

Landscapes

  • Health & Medical Sciences (AREA)
  • Engineering & Computer Science (AREA)
  • Medical Informatics (AREA)
  • Life Sciences & Earth Sciences (AREA)
  • Physics & Mathematics (AREA)
  • General Health & Medical Sciences (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • Public Health (AREA)
  • Biophysics (AREA)
  • Biotechnology (AREA)
  • Bioinformatics & Computational Biology (AREA)
  • Theoretical Computer Science (AREA)
  • Spectroscopy & Molecular Physics (AREA)
  • Evolutionary Biology (AREA)
  • Genetics & Genomics (AREA)
  • Chemical & Material Sciences (AREA)
  • Primary Health Care (AREA)
  • Epidemiology (AREA)
  • Molecular Biology (AREA)
  • Databases & Information Systems (AREA)
  • Biomedical Technology (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Analytical Chemistry (AREA)
  • Pathology (AREA)
  • Data Mining & Analysis (AREA)
  • Organic Chemistry (AREA)
  • Bioethics (AREA)
  • Wood Science & Technology (AREA)
  • Zoology (AREA)
  • Immunology (AREA)
  • Microbiology (AREA)
  • Chemical Kinetics & Catalysis (AREA)
  • Biochemistry (AREA)
  • General Engineering & Computer Science (AREA)
  • Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
  • Medicines That Contain Protein Lipid Enzymes And Other Medicines (AREA)

Abstract

La présente invention concerne un panel de gènes pour un médicament personnalisé, son procédé de formation, et un procédé de traitement personnalisé l'utilisant. Un procédé de formation d'un panel de gènes sur la base d'informations de variation de séquence génomique individuelle, selon un aspect, détecte une variation génétique liée à des maladies réfractaires et analogues, dont le cancer, et permet ainsi la construction d'un traitement personnalisé en tenant compte de la progression, du changement ou analogue du cancer et analogue chez un patient, et un modèle de traitement des maladies.
PCT/KR2019/001247 2018-02-01 2019-01-30 Panel de gènes pour médicament personnalisé, son procédé de formation et procédé de traitement personnalisé l'utilisant WO2019151751A1 (fr)

Priority Applications (1)

Application Number Priority Date Filing Date Title
US16/966,567 US20210057040A1 (en) 2018-02-01 2019-01-30 Gene Panel for Personalized Medicine, Method for Forming Same, and Personalized Treatment Method Using Same

Applications Claiming Priority (2)

Application Number Priority Date Filing Date Title
KR10-2018-0013081 2018-02-01
KR1020180013081A KR102080161B1 (ko) 2018-02-01 2018-02-01 개인 맞춤형 의료를 위한 유전자 패널, 그를 구성하는 방법, 및 그를 이용한 개인 맞춤형 치료 방법

Publications (1)

Publication Number Publication Date
WO2019151751A1 true WO2019151751A1 (fr) 2019-08-08

Family

ID=67478409

Family Applications (1)

Application Number Title Priority Date Filing Date
PCT/KR2019/001247 WO2019151751A1 (fr) 2018-02-01 2019-01-30 Panel de gènes pour médicament personnalisé, son procédé de formation et procédé de traitement personnalisé l'utilisant

Country Status (3)

Country Link
US (1) US20210057040A1 (fr)
KR (1) KR102080161B1 (fr)
WO (1) WO2019151751A1 (fr)

Cited By (2)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
CN114395628A (zh) * 2022-01-13 2022-04-26 博尔诚（北京）科技有限公司 用于结直肠癌筛查的标志物、探针组合物及其应用
DE102021200650A1 (de) 2021-01-26 2022-07-28 Siemens Healthcare Gmbh Verfahren zum Erstellen eines individuellen Gen-Panel-Plans

Families Citing this family (3)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
CN111816315B (zh) * 2020-05-28 2023-10-13 上海市生物医药技术研究院 胰腺导管癌状态评估模型构建方法及应用
CN114350790A (zh) * 2022-01-21 2022-04-15 南昌大学附属口腔医院(江西省口腔医院) 一种侵袭性牙周炎的检测方法
CN117867032B (zh) * 2024-01-22 2024-07-02 湛江中心人民医院 一种再生障碍性贫血症斑马鱼模型的构建方法及应用

Citations (3)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
KR20100112192A (ko) * 2008-02-04 2010-10-18 바이파 사이언스 인코포레이티드 Ｐａｒｐ－매개된 질병을 진단 및 치료하는 방법
KR20160059446A (ko) * 2014-11-18 2016-05-26 사회복지법인 삼성생명공익재단 암 유전체 돌연변이 검출용 유전자 패널
JP2017533714A (ja) * 2014-11-12 2017-11-16 ネオゲノミクス ラボラトリーズ， インコーポレイテッド 末梢血血漿ｄｎａのディープシーケンシングは、骨髄異形成症候群の診断を確認するうえで信頼性が高い

Family Cites Families (1)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
JP5834997B2 (ja) * 2012-02-23 2015-12-24 株式会社ソシオネクスト ベクトルプロセッサ、ベクトルプロセッサの処理方法

Patent Citations (3)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
KR20100112192A (ko) * 2008-02-04 2010-10-18 바이파 사이언스 인코포레이티드 Ｐａｒｐ－매개된 질병을 진단 및 치료하는 방법
JP2017533714A (ja) * 2014-11-12 2017-11-16 ネオゲノミクス ラボラトリーズ， インコーポレイテッド 末梢血血漿ｄｎａのディープシーケンシングは、骨髄異形成症候群の診断を確認するうえで信頼性が高い
KR20160059446A (ko) * 2014-11-18 2016-05-26 사회복지법인 삼성생명공익재단 암 유전체 돌연변이 검출용 유전자 패널

Non-Patent Citations (2)

* Cited by examiner, † Cited by third party
Title
HART, TRAVER, MEASURING ERROR RATES IN GENOMICS PERTURBATION SCREENS : GOLD STANDARDS FOR HUMAN FUNCTIONAL GENOMICS, vol. 10, no. 733, 2014, pages 1 - 14, XP055629351 *
THE CATHOLIC UNIVERSITY OF KOREA, vol. 133, 2017, pages 1 - 28 *

Cited By (2)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
DE102021200650A1 (de) 2021-01-26 2022-07-28 Siemens Healthcare Gmbh Verfahren zum Erstellen eines individuellen Gen-Panel-Plans
CN114395628A (zh) * 2022-01-13 2022-04-26 博尔诚（北京）科技有限公司 用于结直肠癌筛查的标志物、探针组合物及其应用

Also Published As

Publication number Publication date
US20210057040A1 (en) 2021-02-25
KR20190093445A (ko) 2019-08-09
KR102080161B1 (ko) 2020-02-21

Similar Documents

Publication Publication Date Title
WO2019151751A1 (fr) Panel de gènes pour médicament personnalisé, son procédé de formation et procédé de traitement personnalisé l'utilisant
US11884975B2 (en) Sequencing methods and compositions for prenatal diagnoses
US20200291478A1 (en) Identification of polymorphic sequences in mixtures of genomic dna
US10174372B2 (en) Preservation of information related to genomic DNA methylation
CN103898199B (zh) 一种高通量核酸分析方法及其应用
Lee et al. Improved reduced representation bisulfite sequencing for epigenomic profiling of clinical samples
US20140206855A1 (en) Methods and compositions for detecting cancers associated with methylation of hmlh1 promoter dna
EP2691544B1 (fr) Procédé de vérification d'échantillons de bioanalyse
JP2001525181A (ja) 複合ｄｎａメチル化フィンガープリントの調製方法
WO2020096248A1 (fr) Procédé de fabrication et de détection pour une sonde destinée à détecter des mutations dans des cellules de tissu de cancer pulmonaire
Máximo et al. Mitochondrial D-Loop instability in thyroid tumours is not a marker of malignancy
CN112458166A (zh) 一种类风湿疾病基因snp位点分型优化的方法
WO2017007275A1 (fr) Composition pour la détermination d'un phénotype nasal
WO2020209590A1 (fr) Composition pour le diagnostic ou la prédiction pronostique d'un gliome, et procédé pour fournir des informations lui étant associées
WO2019132581A1 (fr) Composition de diagnostic du cancer, tel que du cancer du sein et du cancer de l'ovaire, et son utilisation
WO2011159004A1 (fr) Snp destiné à prédire la sensibilité à une formulation thérapeutique anticancéreuse ciblée
WO2020096247A1 (fr) Procédé de préparation d'une sonde permettant de détecter une mutation dérivée de cellules dans des tissus d'un cancer du sein et procédé de détection
WO2019225803A1 (fr) Association entre un polymorphisme de nucléotide simple de rnf213 et un risque de développer une maladie de moyamoya chez les coréens
WO2019098512A1 (fr) Amorce spécifique d'allèle d'acides nucléiques, et procédé d'identification du génotype l'utilisant
KR101138862B1 (ko) 단일염기 다형을 포함하는 유방암과 관련된 폴리뉴클레오티드, 그를 포함하는 마이크로어레이 및 진단 키트 및 그를이용한 유방암 진단 방법
WO2011078495A2 (fr) Procédé de prédiction chimiosensible pour un polymorphisme mononucléotidique (snp)
Lu et al. Genotyping single nucleotide polymorphisms in homologous regions using multiplex kb level amplicon capture sequencing
WO2018026039A1 (fr) Kit et procédé de détection de polymorphisme nucléotidique simple
CN114507707B (zh) 一种富集目标区域再酶切构建单倍型的方法
WO2022030840A1 (fr) Marqueur de polymorphisme mononucléotidique pour le diagnostic d'une néphropathie à immunoglobulines a, d'une vascularite à immunoglobulines a et procédé de diagnostic l'utilisant

Legal Events

Date Code Title Description
121 Ep: the epo has been informed by wipo that ep was designated in this application

Ref document number: 19747779

Country of ref document: EP

Kind code of ref document: A1

NENP Non-entry into the national phase

Ref country code: DE

122 Ep: pct application non-entry in european phase

Ref document number: 19747779

Country of ref document: EP

Kind code of ref document: A1